KRT34 keratin 34 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT34provided by HGNC
Official Full Name: keratin 34provided by HGNC
Primary source: HGNC:HGNC:6452
See related: Ensembl:ENSG00000131737 MIM:602763; AllianceGenome:HGNC:6452
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HA4; K34; Ha-4; hHa4; KRTHA4
Summary: The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (41377669..41383816, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (42233202..42239349, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39533921..39538558, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough.
Title: Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough.
As an adjunct to biopsy, AMACR and HMWCK have value for resolving diagnostically challenging cases
Title: Evaluation of role of alpha-methyl acyl-coenzyme A racemase/P504S and high molecular weight cytokeratin in diagnosing prostatic lesions.
95 of the prostate carcinoma biopsies demonstrated lack of cytokeratin 34betaE12 expression and only 3 cases showed weak patchy staining.
Title: Diagnostic Value of ERG in Prostate Needle Biopsies Containing Minute Cancer Foci.
Keratin 34betaE12/K7 expression is a prognostic parameter in resected early stage NSCLC that allows identification of high-risk NSCLC patients with poor cancer-specific and overall survival
Title: Keratin 34betaE12/keratin7 expression is a prognostic factor of cancer-specific and overall survival in patients with early stage non-small cell lung cancer.
CK34betaE12 expression is a good indicator of lymph node metastasis, depth of tumor invasion, and differentiation in case of Esophageal squamous cell carcinoma (ESCC).
Title: Expression of cytokeratin 34βE12 is a good indicator of tumor progression in esophageal squamous cell carcinoma.
Overexpressed in recurrent superficial urothelial carcinoma.
Title: Cytokeratin 20, 34betaE12 and overexpression of HER-2/neu in urine cytology as predictors of recurrences in superficial urothelial carcinoma.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH99021 (e-PCR)
- UniSTS:91673

SHGC-57298 (e-PCR)
- UniSTS:68043

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in epithelial cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in intermediate filament	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: keratin, type I cuticular Ha4

Names: hair keratin, type I Ha4; hard keratin, type I, 4; keratin 34, type I; keratin, hair, acidic, 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012291.1 RefSeqGene

Range

5079..9716

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001386014.1 → NP_001372943.1 keratin, type I cuticular Ha4

Status: REVIEWED

Source sequence(s)

AC003958

Consensus CDS

CCDS11390.2

UniProtKB/Swiss-Prot

O76011, Q8IUT8, Q8N4W2

UniProtKB/TrEMBL

A0A140TA69

Related

ENSP00000377570.3, ENST00000394001.3

Conserved Domains (1) summary

pfam00038
Location:55 → 366

Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

41377669..41383816 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011524793.3 → XP_011523095.1 keratin, type I cuticular Ha4 isoform X1

UniProtKB/TrEMBL

A0A140TA69

Conserved Domains (1) summary

pfam00038
Location:73 → 384

Filament; Intermediate filament protein

Reference GRCh38.p14 PATCHES

Genomic

NW_025791801.1 Reference GRCh38.p14 PATCHES

Range

317573..323720 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333198.1 → XP_054189173.1 keratin, type I cuticular Ha4 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NW_003315953.2 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

57958..62596

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

42233202..42239349 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316040.1 → XP_054172015.1 keratin, type I cuticular Ha4 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_021013.3: Suppressed sequence

Description

NM_021013.3: This RefSeq was removed because currently there is support for the transcript but not for the protein.